These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

118 related articles for article (PubMed ID: 38946363)

  • 1. [Clinical characteristics and genetic analysis of two children with X-linked Centronuclear myopathy due to variants of MTM1 gene].
    Wang J; Wang D; Li T; Zeng L; Wang S
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2024 Jul; 41(7):812-816. PubMed ID: 38946363
    [TBL] [Abstract][Full Text] [Related]  

  • 2. [An infant with premature closure of cranial sutures due to variant of ERF gene and a literature review].
    Wang J; Wang D; Zeng L; Wang S
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Aug; 40(8):1009-1014. PubMed ID: 37532503
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Large duplication in MTM1 associated with myotubular myopathy.
    Amburgey K; Lawlor MW; Del Gaudio D; Cheng YW; Fitzpatrick C; Minor A; Li X; Aughton D; Das S; Beggs AH; Dowling JJ
    Neuromuscul Disord; 2013 Mar; 23(3):214-8. PubMed ID: 23273872
    [TBL] [Abstract][Full Text] [Related]  

  • 4. [Clinical features and genetic analysis of a case with Perlman syndrome due to variant of DIS3L2 gene].
    Chen J; Hu C; Ren L; Li J; Lei T; Chen S; Zhao P
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2022 Jan; 39(1):48-51. PubMed ID: 34964966
    [TBL] [Abstract][Full Text] [Related]  

  • 5. [Clinical characteristics and genetic analysis of two children with Tuberous sclerosis complex].
    Li L; Luo S; Zhang Y; Shang Q; Zhang W; Zhang X; Liu L; Mei S
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Dec; 40(12):1521-1525. PubMed ID: 37994135
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Characterization and genetic diagnosis of centronuclear myopathies in seven Chinese patients.
    Zhao Y; Zhao Z; Shen H; Bing Q; Hu J
    Neurol Sci; 2018 Dec; 39(12):2043-2051. PubMed ID: 30232666
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Three novel MTM1 pathogenic variants identified in Japanese patients with X-linked myotubular myopathy.
    Nishikawa A; Iida A; Hayashi S; Okubo M; Oya Y; Yamanaka G; Takahashi I; Nonaka I; Noguchi S; Nishino I
    Mol Genet Genomic Med; 2019 May; 7(5):e621. PubMed ID: 30884204
    [TBL] [Abstract][Full Text] [Related]  

  • 8. X-Linked Myotubular Myopathy in a Female Patient with a Pathogenic Variant in the
    Chausova P; Murtazina A; Stepanova A; Borovicov A; Kovalskaia V; Ryadninskaya N; Chukhrova A; Ryzhkova O; Poliakov A
    Int J Mol Sci; 2023 May; 24(9):. PubMed ID: 37176116
    [TBL] [Abstract][Full Text] [Related]  

  • 9. [Analysis of clinical phenotype and genetic variants among four Chinese pedigrees affected with Waardenburg syndrome].
    Wang L; Mao L; Xu H; Sun S; Zuo B; Lu W
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Jun; 40(6):661-667. PubMed ID: 37211999
    [TBL] [Abstract][Full Text] [Related]  

  • 10. [Genetic analysis of a fetus with Rhizomelic skeletal dysplasia].
    Ding Y; Wang T; Xiang J
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2024 Jul; 41(7):844-848. PubMed ID: 38946370
    [TBL] [Abstract][Full Text] [Related]  

  • 11. [Clinical and genetic analysis of two pedigrees affected with Carnitine-acylcarnitine translocase deficiency due to variant of SLC25A20 gene].
    Zhang Q; Feng X; Wang X; Liu F; Zhou B; Zhang C; Wang Y; Shi J; Hao S; Hui L; Yi B
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2024 Apr; 41(4):467-472. PubMed ID: 38565514
    [TBL] [Abstract][Full Text] [Related]  

  • 12. [Clinical characteristics and genetic analysis of a patient with Acephalic spermatozoa syndrome due to variant of PMFBP1 gene].
    Feng K; Xia Y; Qu X; Wan F; Yang K; Xu J; Zhang C; Guo H
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2024 Jun; 41(6):749-752. PubMed ID: 38818563
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Using exome sequencing to decipher family history in a healthy individual: Comparison of pathogenic and population MTM1 variants.
    Penon M; Zahed H; Berger V; Su I; Shieh JT
    Mol Genet Genomic Med; 2018 Sep; 6(5):722-727. PubMed ID: 30047259
    [TBL] [Abstract][Full Text] [Related]  

  • 14. SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathy.
    Agrawal PB; Pierson CR; Joshi M; Liu X; Ravenscroft G; Moghadaszadeh B; Talabere T; Viola M; Swanson LC; Haliloğlu G; Talim B; Yau KS; Allcock RJ; Laing NG; Perrella MA; Beggs AH
    Am J Hum Genet; 2014 Aug; 95(2):218-26. PubMed ID: 25087613
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Whole exome sequencing discloses a pathogenic MTM1 gene mutation in a continuous polyhydramnios family in China: Case report and literature review.
    Jin N; Xv D; Xv YT; Li XM; Jiang Y; Zhu JP; Lu JF; Luo Q
    Eur J Obstet Gynecol Reprod Biol; 2023 Dec; 291():34-38. PubMed ID: 37813004
    [TBL] [Abstract][Full Text] [Related]  

  • 16. [Genetic analysis of a child with restricted cardiomyopathy and phenylketonuria and a literature review].
    Wang F; Xiao M; Sun Q; Jia L; Lyu A; Yao X
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Aug; 40(8):990-997. PubMed ID: 37532500
    [TBL] [Abstract][Full Text] [Related]  

  • 17. [Analysis of three families with recurrence of non-immune hydrops fetalis by trio whole exome sequencing].
    Zhang T; Zhu X; Gao Z; Huang W; Kong X
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2021 Oct; 38(10):937-941. PubMed ID: 34625927
    [TBL] [Abstract][Full Text] [Related]  

  • 18. [Genetic testing and clinical analysis of a patient with Dilated cardiomyopathy due to variant of FLNC gene].
    Ren Y; Zhang Y; Zhang X; Wang Y; Liu X; Sheng J; Ning S; Liu W; Li X
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2023 Dec; 40(12):1551-1555. PubMed ID: 37994141
    [TBL] [Abstract][Full Text] [Related]  

  • 19. [Clinical features and genetic analysis of a child with Central core disease due to compound heterozygous variants of RYR1 gene].
    Liu S; Mao S; Li B; Wei L; Liu Y
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2024 May; 41(5):581-585. PubMed ID: 38684305
    [TBL] [Abstract][Full Text] [Related]  

  • 20. [Diagnosis of a Chinese pedigree affected with Treacher-Collins syndrome due to a novel variant of TCOF1 gene through whole exome sequencing].
    Jiang N; Liang S; Miao Y; Li S
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2024 Mar; 41(3):322-325. PubMed ID: 38448022
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 6.